ArticleAmerican journal of human genetics2000
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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50 citing papers in PubMed, 129 citations in OpenAlex.
- A model of free sialic acid storage disorder reveals hypomyelinating leukodystrophy and Purkinje cell degeneration.Disease models & mechanisms · 2026Article
- Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.Journal of inherited metabolic disease · 2026Article
- Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.Molecular genetics and metabolism reports · 2025Article
- A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.Molecular genetics and metabolism reports · 2025Review
- Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.JIMD reports · 2025Article
- Lack of significant ganglioside changes inBiochemistry and biophysics reports · 2025Article
- Dissecting the impact of N-acetylmannosamine (ManNAc) on ganglioside levels in a sialin-deficient cell model.microPublication biology · 2025Article
- Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder.Rare (Amsterdam, Netherlands) · 2025Article
- Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.Molecular genetics and metabolism · 2025Article
- Article
- Pressure sensing of lysosomes enables control of TFEB responses in macrophages.Nature cell biology · 2024Article
- Using team-based precision medicine to advance understanding of rare genetic brain disorders.Journal of neurodevelopmental disorders · 2024Review
- Base editing corrects the common Salla diseaseMolecular therapy. Nucleic acids · 2023Article
- Psychiatric symptoms in Salla disease.European child & adolescent psychiatry · 2023Review
- [Free sialic acid storage disorders with fetal hydrops in a neonate].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Altered sialin mRNA gene expression in type 2 diabetic male Wistar rats: implications for nitric oxide deficiency.Scientific reports · 2023Article
- Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions.The Journal of cell biology · 2022Article
- Review
- Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in theCold Spring Harbor molecular case studies · 2021Article
- Free sialic acid storage disorder: Progress and promise.Neuroscience letters · 2021Review
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Authors and funding
8 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal free sialic acid-storage diseases include the allelic disorders Salla disease (SD) and infantile sialic acid-storage disease (ISSD). The defective gene, SLC17A5, coding for the lysosomal free sialic acid transporter was recently isolated by positional cloning. In the present study, we have identified a large number of mutations in SLC17A5 in patients presenting with either Salla disease or the ISSD phenotype. We also report for the first time the exon-intron boundaries of SLC17A5. All Finnish patients with SD (n=80) had a missense mutation changing a highly conserved arginine to cysteine (R39C); 91% of them were homozygotes for this old founder mutation. The compound-heterozygote patients, with the founder mutation in only one allele, presented with a more severe phenotype than did the homozygote patients. The same R39C mutation was also found both in most of the Swedish patients with SD and in a heterozygous form in five patients from central Europe who presented with an unusually severe (intermediate) SD phenotype. Ten different mutations, including deletions, insertions, and missense and nonsense mutations, were identified in patients with the most severe ISSD phenotype, most of whom were compound heterozygotes. Our results indicate some genotype-phenotype correlation in free sialic acid-storage diseases, suggesting that the phenotype associated with the homozygote R39C mutation is milder than that associated with other mutations.
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